First spinal muscular atrophy treatment to be submitted for US FDA approval

18th August 2016

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Nancy Kuntz

Nusinersen, an investigational treatment, has been shown to significantly improve achievement of motor milestones in babies with infantile-onset spinal muscular atrophy, according to an interim analysis of the double-blind, randomised, placebo-controlled Phase 3 clinical trial, ENDEAR.

Thirty-six centres around the world participated in the study, including Ann & Robert H Lurie Children’s Hospital of Chicago (Chicago, USA), which had the highest patient enrolment.

“This landmark study provides the most robust type of evidence that nusinersen, which targets the genetic defect in spinal muscular atrophy, safely and effectively helps infants with this condition gain muscle function,” says Nancy Kuntz, principal investigator at Lurie Children’s, Medical Director of Mazza Foundation Neuromuscular Program and associate professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine, Chicago, USA. “This might be a promising therapy for this devastating disorder.”

Based on these positive findings and safety profile, the trial will be stopped early and nusinersen will be the first spinal muscular atrophy treatment to be filed for US Food and Drug Administration approval. Patients in the study will be transitioned into an open label study in which all infants will receive nusinersen. Biogen, the sponsoring company, is working to open a global expanded access program for eligible patients with infantile-onset spinal muscular atrophy in the coming months.

“Going forward, we could add spinal muscular atrophy to the newborn screening panel and treat infants in the pre-symptomatic phase,” says Leon Epstein, co-principal investigator at Lurie Children’s, Division Head of Neurology, medical director of the Clinical Research Unit of Stanley Manne Children’s Research Institute at Lurie Children’s, and professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine.

The investigational treatment is delivered to the fluid around the spine by lumbar puncture. Repeated doses are needed.

“The success we saw in the trial is incredibly exciting for families of infants with SMA, as well as for physicians who care for these children,” says Kuntz.